TRIM44

Chr 11

TRIM family member 44

Also known as: AN3, DIPB, HSA249128, MC7

NCBI Gene: 54765 ENSG00000166326 UniProt: Q96DX7

This protein contains RING and B-box zinc-binding domains and negatively regulates PAX6 expression, which is critical for eye development. Mutations cause aniridia 3, characterized by absence or underdevelopment of the iris, with autosomal dominant inheritance. The gene shows moderate constraint to loss-of-function variants (LOEUF 0.659).

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAniridia 3

Clinical highlights

Gene-disease validity (ClinGen)

aniridia 3 · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.66

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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